Submissions for variant NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) (rs1800362)

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Total submissions: 8

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000575908	SCV000673292	benign	Hereditary cancer-predisposing syndrome	2016-08-18	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics	RCV000432064	SCV000511767	likely benign	not provided	2016-09-20	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000120977	SCV000168401	benign	not specified	2013-10-31	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ITMI	RCV000120977	SCV000085145	not provided	not specified	2013-09-19	no assertion provided	reference population
Illumina Clinical Services Laboratory,Illumina	RCV000205371	SCV000481135	likely benign	Fanconi anemia	2016-06-14	criteria provided, single submitter	clinical testing
Integrated Genetics/Laboratory Corporation of America	RCV000432064	SCV000695429	benign	not provided	2016-04-29	criteria provided, single submitter	clinical testing	Variant summary: The c.416G>A variant affects a conserved nucleotide, resulting in amino acid change from Gly to Glu. 4/4 in-silico tools predict damaging outcome for this variant (SNPs&GO not captured due to low reliability index). This variant is found in 508/120796 control chromosomes (6 homozygotes) at a frequency of 0.0042054. The variant was present predominantly in the African population at a frequency of 4.5% which is about 26 times of the maximal expected frequency of a pathogenic allele (0.0017678), strongli indicating this variant is benign. In addition, publications/clinical laboratories have classified this variant as benign. Taken together, this variant was classified as benign.
Invitae	RCV000205371	SCV000261883	benign	Fanconi anemia	2018-01-03	criteria provided, single submitter	clinical testing
PreventionGenetics	RCV000120977	SCV000302520	benign	not specified		criteria provided, single submitter	clinical testing

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